SC17: NGS as a Testing Platform: Technology, Clinical Applications, and Global Standardization Strategies

MONDAY, MARCH 2 | 8:00 - 11:00 AM


Clinical NGS is going mainstream and its applications are increasing. A growing number of guidelines and recommendations have been issued but generally do not provide sufficient concrete instructions on how to translate them into laboratory practice. This course will cover an effort by the Clinical Laboratory Standards Institute (CLSI) to introduce practical guidance for several clinical applications of NGS.


  • NGS applications general considerations
  • CLSI new sequencing guidelines for germline, somatic, NIPT and liquid biopsy clinical applications
  • Example of NGS implementation and validation in clinical diagnostics


8:00 am Course Welcome and Introductions

8:05 CLSI New Sequencing Guidelines: Background, Germline and Somatic NGS Applications

Annette Leon, PhD, FACMG, CGMBS, CCS, Head of Clinical Reporting, Color

8:50 A Real-World Example of a Cutting-Edge NGS Application

Kristin McDonald Gibson, PhD, FACMG, Associate Laboratory Director, Invitae

9:30 Refreshment Break

9:45 CLSI New Sequencing Guidelines: NIPT NGS Applications

Bert Gold, PhD, FACMG, CGMBS, Principal Consultant, Gold Standard Genetics LLC

10:15 CLSI New Sequencing Guidelines: Liquid Biopsy NGS Applications

Junaid Shabbeer, PhD, FACMG, Senior Laboratory Directory, Ariosa Diagnostics, Roche Sequencing Solutions

10:45 Interactive Q&A 

11:00 End of Course


Meredith_AnnetteAnnette Leon, PhD, FACMG, CGMBS, CCS, Head, Clinical Reporting, Color

Dr. Annette Leon is a medical geneticist board certified by the American Board of Medical Genetics and Genomics and Head of Clinical Reporting at Color. She completed her fellowship in Clinical Molecular Genetics and Genomics and in Clinical Cytogenetics and Genomics at Harvard Medical School. Previously, she also received her PhD in Biophysics and Computational Biology from the University of Illinois at Urbana and her MS in Biotechnology from Havana University. Dr. Leon is an active contributor to clinical practice guidelines in medical genetics and genomics from professional organizations including ACMG, AMP and CLSI. Her experience encompasses all applications of molecular and cytogenetic technologies in germline, somatic, and cell free circulating DNA clinical tests. Dr. Leon current work focuses on improving access and utilization of genomic medicine with an emphasis in population genomics and healthcare.

McDonald-Gibson_KristinKristin McDonald Gibson, PhD, FACMG, Associate Laboratory Director, Invitae

Dr. McDonald Gibson is board-certified in clinical molecular genetics by the American Board of Medical Genetics and Genomics. Prior to joining Invitae, Dr. McDonald Gibson completed her clinical molecular genetics fellowship at The Children’s Hospital of Philadelphia where she was part of the team that developed and launched the clinical exome sequencing test for the hospital. Dr. McDonald Gibson received her doctorate in genetics and genomics from Duke University in 2013. While at Duke, she established an analysis pipeline that used exome sequencing to identify mutations that cause limb-girdle muscular dystrophy, and she was a member of a neonatal genomics exome sequencing group that investigates the causes of unexplained medical conditions in children.

Gold_BertBert Gold, PhD, FACMG, CGMBS, Principal Consultant, Gold Standard Genetics LLC

Dr. Bert Gold is principal consultant at Gold Standard Genetics LLC, a firm he founded in March 2018 after 28 years of experience in genetics and genomics. Through this time, Dr. Gold has been evaluating, testing, mapping, developing, implementing and commercializing human molecular genetic diagnostics. Gold Standard Genetics LLC has provided laboratory compliance consulting services to a major pharmaceutical corporation and a K Street law firm partner, marketing consulting to major European and American diagnostics manufacturers, large references laboratories, and strategic advice to cancer diagnostics and perinatal diagnostics start-ups. Dr. Gold has held molecular genetics laboratory positions at UMDNJ, Temple, Jefferson Medical College, UCSF, SmithKline/Quest, NIH/NCI, Natera, Novogene and BillionToOne. He is board-certified in Clinical Molecular Genetics, a Fellow of the American College of Medical Genetics and is a licensed laboratory director in all 50 states. He is currently collaborating on standards for the Clinical Laboratory Standards Institute on Liquid Biopsy in Cancer and Non-invasive prenatal testing.

Shabbeer_JunaidJunaid Shabbeer, PhD, FACMG, Senior Laboratory Directory, Ariosa Diagnostics, Roche Sequencing Solutions

Junaid received his PhD in molecular biology from the University of Nottingham in the UK. He was awarded a fellowship from the American Heart Association at the University of Cincinnati to study cardiac gene regulation and helped establish a Marfan syndrome testing laboratory in London. After completing his training in clinical molecular genetics at the Mount Sinai School of Medicine in New York, Junaid joined their faculty in the Department of Human Genetics to work primarily on Fabry disease. He went on to work at Celera and Qiagen Bioinformatics and has served as a Laboratory Director at Myriad Genetics, Guardant Health, Counsyl, and Ariosa Diagnostics. He currently serves as the Senior Laboratory Director at Ariosa, and his primary interests are in NIPT, molecular oncology, and inherited genetic disorders.

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